Terminology Service for NFDI4Health
Lysosomal Storage Diseases, Nervous System
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http://purl.bioontology.org/ontology/MESH/D020140
A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.
Term info
Label
Lysosomal Storage Diseases, Nervous System
Synonyms
- Lysosomal Enzyme Disorders, Nervous System
- Lysosomale Speicherkrankheit, Nervensystem (DE)
- Nervensystem, lysosomale Speicherkrankheit (DE)
- Nervous System Lysosomal Enzyme Disorders
- Nervous System Lysosomal Storage Diseases
AN
GEN: prefer specifics
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
20000101
HN
2000
MDA
19991103
MMR
20060705
MN
C16.320.565.595.554, C10.228.140.163.100.435, C18.452.648.595.554, C18.452.648.189.435, C16.320.565.189.435, C18.452.132.100.435
PM
2000
QB
http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503
SIB
http://purl.bioontology.org/ontology/MESH/D015217, http://purl.bioontology.org/ontology/MESH/D010661, http://purl.bioontology.org/ontology/MESH/D005693, http://purl.bioontology.org/ontology/MESH/D015211, http://purl.bioontology.org/ontology/MESH/D052919, http://purl.bioontology.org/ontology/MESH/D007926, http://purl.bioontology.org/ontology/MESH/D007706, http://purl.bioontology.org/ontology/MESH/D020167, http://purl.bioontology.org/ontology/MESH/D009800, http://purl.bioontology.org/ontology/MESH/D017243, http://purl.bioontology.org/ontology/MESH/D054078, http://purl.bioontology.org/ontology/MESH/D017241, http://purl.bioontology.org/ontology/MESH/D006712, http://purl.bioontology.org/ontology/MESH/D007888, http://purl.bioontology.org/ontology/MESH/D044904, http://purl.bioontology.org/ontology/MESH/D012035, http://purl.bioontology.org/ontology/MESH/D006250, http://purl.bioontology.org/ontology/MESH/D015324, http://purl.bioontology.org/ontology/MESH/D015325, http://purl.bioontology.org/ontology/MESH/D058631, http://purl.bioontology.org/ontology/MESH/D008375, http://purl.bioontology.org/ontology/MESH/D028243, http://purl.bioontology.org/ontology/MESH/D009083, http://purl.bioontology.org/ontology/MESH/D056806, http://purl.bioontology.org/ontology/MESH/D003554, http://purl.bioontology.org/ontology/MESH/D020176, http://purl.bioontology.org/ontology/MESH/D054880, http://purl.bioontology.org/ontology/MESH/D020158, http://purl.bioontology.org/ontology/MESH/D020279, http://purl.bioontology.org/ontology/MESH/D000326, http://purl.bioontology.org/ontology/MESH/D006527
TERMUI
T369112, T369110, T369111, T358120
TH
NLM (2000)
cui
C0751738
hasSTY
http://purl.bioontology.org/ontology/STY/T047
tui
T047